Variant report

Variant	nsv1029650
Chromosome Location	chr5:107370079-107435314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:107422254..107425406-chr5:107428129..107431708,3	K562	blood:
2	chr5:107190619..107191158-chr5:107428660..107429481,2	MCF-7	breast:
3	chr5:107422254..107425406-chr5:107428129..107431708,3	K562	blood:
4	chr5:107364061..107366146-chr5:107369915..107372470,2	K562	blood:

Extended variants
information (count: 2505 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2505 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572948113	chr5:107370089-107370090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190420477	chr5:107370117-107370118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564688399	chr5:107370207-107370208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139257469	chr5:107370261-107370262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144182893	chr5:107370268-107370269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563681195	chr5:107370275-107370276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183562360	chr5:107370363-107370364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548915788	chr5:107370365-107370366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555390998	chr5:107370388-107370389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369221258	chr5:107370434-107370435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs288158	chr5:107370465-107370466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs188842309	chr5:107370476-107370477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193214186	chr5:107370477-107370478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184363811	chr5:107370485-107370486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536895309	chr5:107370635-107370636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187853536	chr5:107370649-107370650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573936524	chr5:107370655-107370656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536572041	chr5:107370678-107370679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146278922	chr5:107370689-107370690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571492205	chr5:107370705-107370706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1363279	chr5:107370763-107370764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1024975	chr5:107370767-107370768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs139438940	chr5:107370800-107370801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564879702	chr5:107370823-107370824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114491044	chr5:107370833-107370834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs288157	chr5:107370894-107370895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs144140957	chr5:107370922-107370923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565603690	chr5:107370946-107370947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542927756	chr5:107370970-107370971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377546419	chr5:107370996-107370997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111464214	chr5:107371008-107371009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115045628	chr5:107371022-107371023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571690796	chr5:107371065-107371066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191911840	chr5:107371080-107371081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145028529	chr5:107371088-107371089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113305069	chr5:107371097-107371098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536535375	chr5:107371121-107371122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553334541	chr5:107371153-107371154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566461420	chr5:107371243-107371244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373197223	chr5:107371250-107371251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184103560	chr5:107371269-107371270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558534871	chr5:107371270-107371271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575199653	chr5:107371303-107371304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575876612	chr5:107371333-107371334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557097120	chr5:107371346-107371347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573928902	chr5:107371384-107371385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542890915	chr5:107371456-107371457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540529499	chr5:107371485-107371486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201337813	chr5:107371507-107371508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377278643	chr5:107371508-107371509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107339600-107373800	Weak transcription	Primary T cells from cord blood	blood
2	chr5:107364000-107390000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:107364400-107373200	Weak transcription	Pancreas	Pancrea
4	chr5:107369800-107370200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:107370200-107371400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:107371400-107372400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:107371800-107372800	Enhancers	HUVEC	blood vessel
8	chr5:107373200-107373400	Enhancers	Pancreas	Pancrea
9	chr5:107381400-107382800	Weak transcription	Fetal Intestine Small	intestine
10	chr5:107381400-107389600	Weak transcription	Aorta	Aorta
11	chr5:107381800-107390000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:107382000-107386000	Weak transcription	Fetal Muscle Leg	muscle
13	chr5:107382400-107383200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr5:107382400-107384200	Weak transcription	Primary T cells from cord blood	blood
15	chr5:107382400-107384800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:107382600-107382800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:107382600-107383000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:107382600-107383200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr5:107382600-107383200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr5:107382600-107383200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr5:107382600-107383400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:107382600-107383400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr5:107382800-107383000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:107382800-107383400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:107382800-107383400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:107382800-107383400	Enhancers	Left Ventricle	heart
27	chr5:107382800-107383600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:107382800-107384000	Strong transcription	Fetal Intestine Small	intestine
29	chr5:107383000-107383400	Enhancers	Right Ventricle	heart
30	chr5:107383000-107383800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:107383400-107383600	Enhancers	Gastric	stomach
32	chr5:107383400-107389600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:107383400-107390000	Weak transcription	Left Ventricle	heart
34	chr5:107383400-107396400	Weak transcription	Right Ventricle	heart
35	chr5:107383600-107390200	Weak transcription	Gastric	stomach
36	chr5:107384000-107384800	Weak transcription	Fetal Intestine Small	intestine
37	chr5:107386200-107386800	Weak transcription	Primary T cells from cord blood	blood
38	chr5:107387400-107389200	Weak transcription	Primary T cells from cord blood	blood
39	chr5:107388400-107510800	Weak transcription	Primary B cells from cord blood	blood
40	chr5:107389200-107390600	ZNF genes & repeats	Primary T cells from cord blood	blood
41	chr5:107389400-107390600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:107389600-107389800	ZNF genes & repeats	Pancreas	Pancrea
43	chr5:107389600-107390000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:107389600-107390400	ZNF genes & repeats	Aorta	Aorta
45	chr5:107389600-107390600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
46	chr5:107389600-107390800	Enhancers	Dnd41	blood
47	chr5:107390000-107390200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr5:107390000-107390400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
49	chr5:107390000-107390400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
50	chr5:107390000-107390400	ZNF genes & repeats	Liver	Liver

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